Fossati Silvia, Todd Krysti, Sotolongo Krystal, Ghiso Jorge, Rostagno Agueda
*Department of Pathology, New York University School of Medicine, New York, NY 10016, U.S.A.
Biochem J. 2013 Dec 15;456(3):347-60. doi: 10.1042/BJ20130652.
Mutations within the Aβ (amyloid β) peptide, especially those clustered at residues 21-23, are linked to early-onset AD (Alzheimer's disease) and primarily associated with cerebral amyloid angiopathy. The Iowa variant, a substitution of an aspartic acid residue for asparagine at position 23 (D23N), associates with widespread vascular amyloid and abundant diffuse pre-amyloid lesions significantly exceeding the incidence of mature plaques. Brain Iowa deposits consist primarily of a mixture of mutated and non-mutated Aβ species exhibiting partial aspartate isomerization at positions 1, 7 and 23. The present study analysed the contribution of the post-translational modification and the D23N mutation to the aggregation/fibrillization and cell toxicity properties of Aβ providing insight into the elicited cell death mechanisms. The induction of apoptosis by the different Aβ species correlated with their oligomerization/fibrillization propensity and β-sheet content. Although cell toxicity was primarily driven by the D23N mutation, all Aβ isoforms tested were capable, albeit at different time frames, of eliciting comparable apoptotic pathways with mitochondrial engagement and cytochrome c release to the cytoplasm in both neuronal and microvascular endothelial cells. Methazolamide, a cytochrome c release inhibitor, exerted a protective effect in both cell types, suggesting that pharmacological targeting of mitochondria may constitute a viable therapeutic avenue.
β淀粉样蛋白(Aβ)肽内的突变,尤其是那些聚集在21 - 23位残基的突变,与早发性阿尔茨海默病(AD)相关,并且主要与脑淀粉样血管病有关。爱荷华变体是23位天冬酰胺被天冬氨酸残基取代(D23N),与广泛的血管淀粉样蛋白和大量弥漫性淀粉样前体病变相关,其发生率显著超过成熟斑块。脑内的爱荷华沉积物主要由在1、7和23位表现出部分天冬氨酸异构化的突变和未突变Aβ物种的混合物组成。本研究分析了翻译后修饰和D23N突变对Aβ聚集/纤维化和细胞毒性特性的贡献,从而深入了解引发的细胞死亡机制。不同Aβ物种诱导的细胞凋亡与其寡聚化/纤维化倾向和β-折叠含量相关。虽然细胞毒性主要由D23N突变驱动,但所有测试的Aβ异构体,尽管在不同时间框架内,都能够在神经元和微血管内皮细胞中引发与线粒体参与和细胞色素c释放到细胞质相当的凋亡途径。甲醋唑胺,一种细胞色素c释放抑制剂,可以在两种细胞类型中发挥保护作用,这表明线粒体的药物靶向可能构成一条可行的治疗途径。